QuickView for Ataxin 3 (gene)

Gene Symbol:

ATXN3 Homo sapiens

Full name:

ataxin 3

Synonyms:

AT3, ATX3, JOS, MJD, MJD1, SCA3, ataxin-3, Machado-Joseph disease protein 1, josephin, olivopontocerebellar ataxia 3, spinocerebellar ataxia type 3 protein

Genomic Location:

Chr 14: 91598883-91642707

Description:

Machado-Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder. The protein encoded by this gene contains (CAG)n repeats in the coding region, and the expansion of these repeats from the normal 12-44 to 52-86 is one cause of Machado-Joseph disease. There is a negative correlation between the age of onse...

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Machado-Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder. The protein encoded by this gene contains (CAG)n repeats in the coding region, and the expansion of these repeats from the normal 12-44 to 52-86 is one cause of Machado-Joseph disease. There is a negative correlation between the age of onset and CAG repeat numbers. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  C. elegans ,  Macaca mulatta ,  Gallus gallus ,  Danio rerio ,  Canis lupus familiaris ,  Pan troglodytes ,  Bos taurus

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

CMYB_01 ,  USF_Q6 ,  CACGTG_MYC_Q2 ,  MAX_01 ,  E2F1_Q4 ,  GTGCAAT_MIR25_MIR32_MIR92_MIR363_MIR367 ,  TTGGAGA_MIR5155P_MIR519E ,  USF_01 ,  ATATGCA_MIR448 ,  AACTTT_UNKNOWN ,  USF_02 ,  ACACTGG_MIR199A_MIR199B

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miRNA binding sites
(Source: TargetScan):

Predicted Gene Targets for miR-25 ,  Predicted Gene Targets for miR-9

Cytogenetic Map:

14q32.12

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